Nonclassic 21-Hydroxylase Deficiency

Nonclassic 21-hydroxylase deficiency (NC21OHD) was identified as the most frequent autosomal recessive disorder in humans, particularly prevalent among Ashkenazi Jews, Hispanics, Slavs, and Italians. This mild form of congenital adrenal hyperplasia caused symptoms such as acne, short stature, hirsutism, and male-pattern hair loss in women, all reversible with proper treatment. The disorder led to decreased fertility but was easily treatable, with symptoms reversible in as little as three months. Research identified specific gene mutations for both classic and nonclassic forms, and introduced treatments, including prenatal interventions for classic 21OHD. Despite its prevalence, many children were only diagnosed after developing significant symptoms like precocious puberty or stunted growth.